Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Syndrome and BMPR2[original query] |
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The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. Journal of medical genetics 2004 Jul 41 (7): 484-91. Howe J R, Sayed M G, Ahmed A F, Ringold J, Larsen-Haidle J, Merg A, Mitros F A, Vaccaro C A, Petersen G M, Giardiello F M, Tinley S T, Aaltonen L A, Lynch H |
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. Journal of medical genetics 2013 Aug 50 (8): 500-6. Kerstjens-Frederikse Wilhelmina S, Bongers Ernie M H F, Roofthooft Marcus T R, Leter Edward M, Douwes J Menno, Van Dijk Arie, Vonk-Noordegraaf Anton, Dijk-Bos Krista K, Hoefsloot Lies H, Hoendermis Elke S, Gille Johan J P, Sikkema-Raddatz Birgit, Hofstra Robert M W, Berger Rolf M |
Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation. British journal of cancer 2015 Aug 113 (4): 686-92. Pinheiro Manuela, Pinto Carla, Peixoto Ana, Veiga Isabel, Lopes Paula, Henrique Rui, Baldaia Helena, Carneiro Fátima, Seruca Raquel, Tomlinson Ian, Kovac Michal, Heinimann Karl, Teixeira Manuel |
Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates. Respiratory research 2019 Aug 20 (1): 174. Liu Xu, Mei Mei, Chen Xiang, Lu Yulan, Dong Xinran, Hu Liyuan, Hu Xiaojing, Cheng Guoqiang, Cao Yun, Yang Lin, Zhou Wenh |
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. The Journal of pediatrics 2020 Jun . Haarman Meindina G, Kerstjens-Frederikse Wilhelmina S, Vissia-Kazemier Theresia R, Breeman Karel T N, Timens Wim, Vos Yvonne J, Roofthooft Marc T R, Hillege Hans L, Berger Rolf M |
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical genetics 2020 12 99 (4): 547-557. Zarate Yuri A, Bosanko Katherine A, Thomas Mary Ann, Miller David T, Cusmano-Ozog Kristina, Martinez-Monseny Antonio, Curry Cynthia J, Graham John M, Velsher Lea, Bekheirnia Mir Reza, Seidel Veronica, Dedousis Demitrios, Mitchell Anna L, DiMarino Amy M, Riess Angelika, Balasubramanian Meena, Fish Jennifer L, Caffrey Aisling R, Fleischer Nicole, Pierson Tyler Mark, Lacro Ronald |
Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study. Jornal de pediatria 2021 Oct . Nakwan Narongsak, Mahasirimongkol Surakameth, Satproedprai Nusara, Chaiyasung Tassamonwan, Kunhapan Punna, Charoenlap Cheep, Singkhamanan Kamonnut, Charalsawadi Chariyaw |
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. American journal of respiratory and critical care medicine 2022 7 206 (12): 1522-1533. Prapa Matina, Lago-Docampo Mauro, Swietlik Emilia M, Montani David, Eyries Mélanie, Humbert Marc, Welch Carrie L, Chung Wendy K, Berger Rolf M F, Bogaard Harm Jan, Danhaive Olivier, Escribano-Subías Pilar, Gall Henning, Girerd Barbara, Hernandez-Gonzalez Ignacio, Holden Simon, Hunt David, Jansen Samara M A, Kerstjens-Frederikse Wilhelmina, Kiely David G, Lapunzina Pablo, McDermott John, Moledina Shahin, Pepke-Zaba Joanna, Polwarth Gary J, Schotte Gwen, Tenorio-Castaño Jair, Thompson A A Roger, Wharton John, Wort Stephen J, Megy Karyn, Mapeta Rutendo, Treacy Carmen M, Martin Jennifer M, Li Wei, Swift Andrew J, Upton Paul D, Morrell Nicholas W, Gräf Stefan, Valverde Diana, , , |
Identification of Germline Mutations in Genes Involved in Classic FAP in Patients from Northern Brazil. Cancer diagnosis & prognosis 2022 5 2 (3): 405-410. DI Felipe Ávila Alcantara Diego, Lima Júnior Sergio Figueiredo, DE Assumpção Paulo Pimentel, Lamarão Leticia Martins, DE Castro Sant'anna Carla, Moreira-Nunes Caroline Aquino, Burbano Rommel Rodrigu |
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